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Success stories of rare cancer patients benefiting from precision medicine.

· Remy Daroowala

A new understanding of cancer is transforming treatment options for rare cancer patients, offering hope for better outcomes.

Cancer isn’t just rapid cell growth—it’s driven by complex genetic mutations and molecular processes. Standard treatments like chemotherapy and radiotherapy aren’t always effective for rare cancers but precision medicine is changing that, with tools like Whole Genome Sequencing (WGS). By identifying and targeting the specific mutations that drive cancer, precision medicine opens the door to targeted therapies and personalized care.

At Gena Health, we’re dedicated to making these advancements accessible to patients. In the following sections, we’ll explore how groundbreaking research on WGS is reshaping how we think about cancer treatment. 

But first, let’s take a look at what Whole Genome Sequencing is.

What is Whole Genome Sequencing?

The genome is a blueprint for how to make a human being, except instead of ink on paper, it’s made up of DNA. Just like a collection of words make a sentence, sections of DNA combine to create genes - coded instructions for every part of your body, from microscopic cells to more visible things like eye colour.

Cancer develops because of mutations – abnormal changes in the genome that make cancer cells grow and multiply more than normal ones.

To perform Whole Genome Sequencing for cancer, scientists take a sample from the skin or saliva and a biopsy from the tumour and compare the differences between the ‘normal’ genome and the cancer genome. 

These differences give doctors information like

How Whole Genome Sequencing Benefits High Risk Cancer Patients.

In young patients with high-risk cancer, where the cure rate is less than 30%, Whole Genome Sequencing (WGS) offers a potential lifeline. 

In an Australian study of children with high-risk cancer, precision-guided therapies, informed by WGS, led to significantly better outcomes. About 70% received treatment recommendations, and 43% went on to receive these treatments. Patients treated with precision-guided therapies were over twice as likely to survive for two years without their cancer progressing compared to those receiving standard care. In some cases, progression-free survival rates reached 88% at two years.

Research like this suggests that the future of cancer care lies in the ability to map and understand the unique genetic landscape of each tumour, unlocking targeted, more effective therapies.

But what about patients who don’t have high-risk cancer?

The benefits of routine precision medicine for cancer patients

Research suggests that whole genome sequencing isn’t just valuable for high-risk patients but could help all kinds of patients.

A Great Ormond Street Hospital study of 282 children found that WGS provided important information about their cancer and treatment in nearly a third of cases and improved care, sped up diagnosis or flagged missed treatment opportunities for a quarter of patients.

WGS changed the course of treatment in 7% of cases and provided additional disease-relevant findings in 29%. WGS accelerated diagnoses, identified previously missed treatment opportunities, and even improved management in 24% of cases.

How precision medicine benefits individual patients.

Genomic sequencing can reveal insights that standard diagnostic methods miss. Understanding the genetic makeup of a tumour helps doctors and patients make more informed decisions about their treatment. The following case studies illustrate how Whole Genome Sequencing transformed cancer care for children, showing just how pivotal this technology can be in guiding cancer treatment.

Precision medicine can uncover critical genetic details that may otherwise go unnoticed, ensuring more personalised and safer treatment options

In one case, a young girl with neuroblastoma in her chest underwent WGS, which revealed a previously unidentified breast cancer-predisposing mutation (PALB2). This discovery allowed doctors to alter her treatment plan, specifically adjusting her radiotherapy to protect her breasts from unnecessary exposure and reducing her future risk of breast cancer.

Precision medicine can avoid overtreatment by revealing critical genetic information that isn’t detected by standard testing.

A child with B-cell acute lymphoblastic leukaemia was found to have a rare genetic fusion (IGH-DUX4) through WGS. The fusion indicated a good prognosis, meaning that the child avoided more aggressive treatment options despite having residual disease.

WGS can uncover previously unknown features that may lend themselves to further research.

In two children with anaplastic large-cell lymphoma (ALCL), WGS helped uncover that sensitivity to UV light made the tumour more prone to mutation, providing insight into why the presence of skin involvement increased the risk of recurrence. This had never been reported in paediatric cases before, further emphasising how WGS can reveal new risk factors and treatment pathways.

Whole Genome Sequencing is not a one-size-fits-all solution, but it is an exciting step forward in the world of treatment for rare cancer patients. By uncovering the unique genetic mutations driving cancer, WGS could open the door to personalised, targeted therapy and better outcomes for those in need. 

At Gena Health, we are committed to making precision medicine understandable and accessible, helping patients and their families navigate their cancer journey with greater clarity and support. If you have questions or need further information, we’re here to help. Find out more how we can help by contacting us here.

Medical Disclaimer: The information provided is for educational purposes only and should not substitute professional medical advice. Always consult healthcare professionals for medical decisions.